Canonical Allele Identifier: CA366952553
Gene: DNAH11 HGNC NCBI

Linked Data

gnomAD v4: 7-21619133-G-T
MyVariant Identifiers: chr7:g.21658751G>T (hg19) chr7:g.21619133G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21619133G>T , CM000669.2:g.21619133G>T GRCh38
NC_000007.13:g.21658751G>T , CM000669.1:g.21658751G>T GRCh37
NC_000007.12:g.21625276G>T NCBI36
NG_012886.2:g.80919G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.4288G>T MANE Select ENSP00000475939.1:p.Ala1430Ser
ENST00000328843.10:c.4303G>T ENSP00000330671.7:p.Ala1435Ser
ENST00000409508.7:c.4288G>T ENSP00000475939.1:p.Ala1430Ser
ENST00000465593.1:n.314G>T
ENST00000620169.4:c.4303G>T ENSP00000481693.1:p.Ala1435Ser
NM_001277115.1:c.4288G>T NP_001264044.1:p.Ala1430Ser
NM_001277115.2:c.4288G>T MANE Select NP_001264044.1:p.Ala1430Ser
Search 100 bp 5'
Search 100 bp 3'